Congenital Central Hypoventilation Syndrome: What to Expect During Pregnancy

Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disease that affects the autonomic regulation of breathing. Patients present with respiratory symptoms such as sleep apnea and dependency on mechanical ventilation during sleep or nonrespiratory symptoms such as orthostatic hypotension and sinus bradycardia. CCHS in the neonates are linked but not limited to Hirschsprung disease, neural crest cell tumors, and esophageal dysmotility. Literature about CCHS management in pregnancy is scarce. Several studies have shown that pregnant CCHS patients are at risk of adverse pregnancy outcomes such as preterm delivery, low birth weight, and maternal complications including increased dependency on the mechanical ventilation and sometimes cardiopulmonary arrest. A multidisciplinary approach has been shown to be associated with better pregnancy outcomes. In this case report, we present a case of a patient with CCHS who had her prenatal care at our high-risk pregnancy unit and delivered a healthy baby. We encourage having a thorough discussion with such high-risk patients throughout their prenatal care or even preconception about their pregnancy expectations and outcomes in order to provide them and their babies with the care needed in the postpartum period.